Prenatal Diagnosis of Bachmann‐Bupp Syndrome Associated With an ODC1 Variant Presented With Macrocephaly and Ventricular Septal Defect Identified by Second Trimester Ultrasound
The study aims to explore the feasibility of diagnosing Bachmann-Bupp syndrome through prenatal imaging.
Reviewed ultrasound images from the second trimester.
Identified specific fetal anomalies including macrocephaly and ventricular septal defect.
Conducted genetic analysis for ODC1 variant.
Successfully diagnosed Bachmann-Bupp syndrome through ultrasound findings.
Identified ODC1 variant as associated with observed fetal defects.
Macrocephaly and ventricular septal defect were confirmed as key markers.
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Key Points What is already known about this topic? What does this study add?
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Prenatal Diagnosis of Bachmann‐Bupp Syndrome Associated With an ODC1 Variant Presented With Macrocephaly and Ventricular Septal Defect Identified by Second Trimester Ultrasound | Synapse